(Q42474753)

English

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain

scientific article published on 21 July 2010

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

1 November 2017

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 November 2017

object named as

Ester Quintana

1

0 references

object named as

Frederic Tort

5

0 references

object named as

Antonia Ribes

6

0 references

author name string

Mercé Pineda

2

1 reference

Europe PubMed Central

PubMed publication ID

1 November 2017

Aida Font

3

1 reference

Europe PubMed Central

PubMed publication ID

1 November 2017

Maria Antonia Vilaseca

4

1 reference

Europe PubMed Central

PubMed publication ID

1 November 2017

Paz Briones

7

1 reference

Europe PubMed Central

PubMed publication ID

1 November 2017

publication date

21 July 2010

1 reference

Europe PubMed Central

PubMed publication ID

1 November 2017

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

1 November 2017

33 Suppl 3

1 reference

Europe PubMed Central

PubMed publication ID

1 November 2017

S315-9

1 reference

Europe PubMed Central

PubMed publication ID

1 November 2017

https://scigraph.springernature.com/pub.10.1007/s10545-010-9169-4

0 references

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9169-4

21 January 2018

FATP1 localizes to mitochondria and enhances pyruvate dehydrogenase activity in skeletal myotubes.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9169-4

21 January 2018

The mitochondrial glycine cleavage system. Unique features of the glycine decarboxylation

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9169-4

21 January 2018

Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9169-4

21 January 2018

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9169-4

21 January 2018

Identifiers

10.1007/S10545-010-9169-4

1 reference

Europe PubMed Central

PubMed publication ID

1 November 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 November 2017

ResearchGate publication ID

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